Scientific and Research Advisory Board

Jimmy L. Holder, Jr.

Assistant Professor, Baylor College of Medicine, Houston, TX

Education

1996 B.A. in Biology, Johns Hopkins University, Baltimore, MD

2005 M.D., University of Texas Southwestern Medical School, Dallas, TX

2005 Ph.D. in Genetics, University of Texas Southwestern Medical School, Dallas, TX. Mentor: Andrew R. Zinn, MD, PhD

Post-graduate Education and Training

2005-2007 Postdoctoral Fellow, University of California San Francisco. Mentor: Louis Ptacek, MD.

2007-2009 Pediatric Resident, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas

2009-2012 Fellow in Neurology and Pediatric Neurology, Baylor College of Medicine

Academic Appointments

2012 Instructor, Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine

2013 Assistant Professor, Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine

Certification

2012 Diplomate in Neurology with Special Qualifications in Child Neurology, American Board of Psychiatry and Neuro

Honors and Awards

2008 Reba Hill Scholarship, Baylor College of Medicine

2012 Resident Scholarship to 2012 American Academy of Neurology Annual Meeting

2013 Chao Physician Scientist Award, Baylor College of Medicine

2014 Pediatrics Pilot Award, Baylor College of Medicine

2015 Junior Faculty Seed Award, Baylor College of Medicine

2015 Philip R. Dodge Young Investigator Award, Child Neurology Society

Professional Memberships

2007 American Academy of Pediatrics

2009 American Academy of Neurology

2009 Child Neurology Society

Professional Service

2014 Co-organized Society for Neuroscience satellite meeting “Synaptopathies in neurodevelopmental disorders: SHANK as a window into synaptic function”

2015-2018 Awards Committee for the Child Neurology Society

2016- Ad hoc reviewer, Special Emphasis Panel R13 conference applications, NINDS

2016 Co-organized First International SYNGAP1 Symposium

Advisory Board Memberships

2015-present Director, Medical Advisory Board for Bridge the Gap, SYNGAP Education and Research Foundation

2017-present Member, Rare Epilepsy Network (REN) Steering Committee

Institutional Service

2014-present Member of the Education Committee for the Child Neurology section of the Department of Pediatrics

2014-present Member of the Medical School Admissions Committee

2014-present Member of the Medical School Promotions Committee

2014-present Member of the Research Conflict of Interest Committee

2014-present Chair of the Clinical Competency Committee, Department of Pediatrics, Division of Neurology and Developmental Neuroscience

Barbara Burton, MD

Barbara Burton, MD

Professor of Pediatrics at Northwestern University Medical School , Clinical geneticist at Children’s Memorial Hospital. She graduated from Northwestern University Medical in 1973 and then completed her pediatric residency and fellowship in genetics at Children’s Memorial Hospital. Treats Gaucher disease, Fabry disease, mucopolysaccharidoses, PKU, galactosemia, glycogen storage disease, inborn errors of metabolism, Marfan syndrome, neurofibromatosis, neurogenetic disorders, phenylketonuria and skeletal dysplasia.

Dr. Gregory Pastores

Dr. Gregory Pastores Currently on staff at Mater Misericordiae University Hospital, Dublin, Ireland. Previously Associate Professor of Neurology and Pediatrics at the NYU School of Medicine in New York. Director of the Neurogenetics Laboratory for the Department of Neurology at NYU. He graduated from the University of Sto. Tomas in Manila (1983) and received his training in Pediatrics and Genetics at the Mount Sinai Medical Center in New York (1989) and at the Mayo Clinic in Minnesota (1991). He is Board Certified in Pediatrics (1989) and in Clinical Genetics (1993) and Clinical Molecular Genetics (1993). Dr. Pastores has extensive clinical and research experience in the diagnosis and management of patients with the lysosomal storage disorders and with inherited diseases that primarily afflict individuals of Ashkenazi Jewish ancestry.

Prof. Grzegorz Wegrzyn

Prof. Grzegorz Wegrzyn

Head of Laboratory of Molecular Genetics of University of Gdansk, Head of Department of Molecular Biology of University of Gdansk, Dean of Faculty of Biology, Geography and Oceanology of University of Gdansk, Poland. Vice-President (for Research affairs) of University of Gdansk The group of Grzegorz Węgrzyn, from the Department of Molecular Biology of University of Gdansk, Poland, found that genistein decreases pathological cumulation of glycosaminoglycans in Sanfilippo syndrome. (GET-IT) In vitro, animal studies and clinical experiments suggest that the symptoms of the disease may be alleviated by adequate dose of genistein. He is the member of the Polish Mucopolisaccharidosis (MPS) patient association and has a daughter with MPS I.